Fibrodysplasia Ossificans Progressive is a rare genetic disorder that causes bone tissue to develop in muscles, tendons, and ligaments. Symptoms begin in childhood and worsen over time, leading to loss of mobility and other health complications. The disorder is caused by a mutation in the ACVR1 gene and has no cure, but corticosteroids can help reduce bone deposition.
Fibrodysplasia Ossificans Progressive is a genetic disorder that affects connective tissue. The main consequence of this disorder is heterotopic ossification, the development of bone tissue in places where bone is not present in a healthy body. These locations include muscles, tendons and ligaments. The first symptoms of fibrodysplasia ossificans progressive usually develop in childhood, and the disease progresses throughout the individual’s life. It is an extremely rare disease with a global frequency of one in 2 million people.
Children who are born with fibrodysplasia ossificans progressive appear normal in almost all respects. The only abnormality present in almost all cases is a big toe deformity, in which the toes are much shorter than normal and have a big toe-like bony lump near the base of the toe. The presence of this big toe abnormality at birth is considered a defining diagnostic feature of the disorder.
Generally, progressive symptoms begin to appear as the child approaches adolescence. The first symptoms are painful soft tissue swellings that are exacerbated by injury or viral disease. Over time, the swellings become more numerous and the existing swellings become harder as the soft tissue gradually turns into bone. The joints stiffen and movement becomes difficult and painful. People with this condition gradually lose mobility as the disease progresses, and most require a wheelchair or other mobility aid by the third decade of life.
Loss of mobility is not necessarily the most debilitating consequence of this disorder, due to soft tissue involvement in all parts of the body other than those involved in movement. For example, the muscles and connective tissue in the chest wall can be damaged due to bone growths. This can lead to acute or chronic pneumonia and heart failure.
The underlying cause of fibrodysplasia ossificans progressive is a mutation in a gene called ACVR1, which codes for a protein known as activin receptor type 1. This mutation changes the shape of the receptor and causes it to malfunction. As a result, soft tissue injuries cause bone to be deposited during the body’s repair process. This is why injuries can not only cause new swellings to form, but also exacerbate existing ones. Viral disease plays a role in the development of abnormal bone tissue because the immune system causes inflammatory reactions that can also cause tissue damage.
Fibrodysplasia ossificans Progressive is an incurable disease, but some medications can help reduce the rate of bone deposition in the body. The main drug used to achieve this goal is corticosteroids. A short course of high-dose corticosteroids can be given when symptoms of the disorder occur. By reducing inflammation in the body, this treatment can reduce the amount of bone deposition that occurs. Other medications that may be used include pain relievers and muscle relaxants, to reduce pain and muscle spasms.
Protect your devices with Threat Protection by NordVPN
